Incidental Mutation 'R0409:1700113H08Rik'
ID 36528
Institutional Source Beutler Lab
Gene Symbol 1700113H08Rik
Ensembl Gene ENSMUSG00000047129
Gene Name RIKEN cDNA 1700113H08 gene
Synonyms
MMRRC Submission 038611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0409 (G1)
Quality Score 163
Status Validated
Chromosome 10
Chromosomal Location 86893909-87066451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87061816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 89 (A89S)
Ref Sequence ENSEMBL: ENSMUSP00000130852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169849] [ENSMUST00000189456] [ENSMUST00000189775]
AlphaFold E9Q9Q5
Predicted Effect probably damaging
Transcript: ENSMUST00000169849
AA Change: A89S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130852
Gene: ENSMUSG00000047129
AA Change: A89S

DomainStartEndE-ValueType
Pfam:DUF4607 71 325 2.1e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189456
SMART Domains Protein: ENSMUSP00000140447
Gene: ENSMUSG00000047129

DomainStartEndE-ValueType
Pfam:DUF4607 45 206 6.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189775
SMART Domains Protein: ENSMUSP00000141184
Gene: ENSMUSG00000047129

DomainStartEndE-ValueType
Pfam:DUF4607 6 160 6.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219879
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 T A 2: 93,831,793 (GRCm39) I146F possibly damaging Het
Aox1 A T 1: 58,375,783 (GRCm39) I871F possibly damaging Het
Birc2 A C 9: 7,819,385 (GRCm39) V509G possibly damaging Het
Car7 G A 8: 105,275,056 (GRCm39) A165T probably damaging Het
Ccdc81 A G 7: 89,535,423 (GRCm39) V271A probably benign Het
Cdc40 G T 10: 40,723,164 (GRCm39) H302N probably damaging Het
Cep104 C T 4: 154,067,510 (GRCm39) probably benign Het
Cfap54 C A 10: 92,612,075 (GRCm39) S3161I probably benign Het
Chil5 A G 3: 105,942,282 (GRCm39) probably benign Het
Chil6 C T 3: 106,311,492 (GRCm39) G96D probably benign Het
Cnot1 T C 8: 96,475,483 (GRCm39) K531E probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Disp3 T G 4: 148,356,416 (GRCm39) E148A probably damaging Het
Eps8l2 A G 7: 140,922,893 (GRCm39) Y52C probably damaging Het
Exph5 C A 9: 53,285,643 (GRCm39) T908K probably benign Het
Fat4 C T 3: 39,031,562 (GRCm39) S2449F probably damaging Het
Faxc T A 4: 21,948,751 (GRCm39) N154K probably benign Het
Fbxo43 C T 15: 36,162,503 (GRCm39) A235T probably benign Het
Fnip1 A G 11: 54,371,180 (GRCm39) probably null Het
Fsd1l T C 4: 53,679,932 (GRCm39) L210P probably benign Het
Gm6420 A C 1: 23,295,119 (GRCm39) S123R unknown Het
Gm8801 T G 17: 36,258,268 (GRCm39) noncoding transcript Het
Gmfb T C 14: 47,053,679 (GRCm39) I36V probably benign Het
Gsap G A 5: 21,427,443 (GRCm39) probably benign Het
Hectd1 T A 12: 51,829,339 (GRCm39) I969L possibly damaging Het
Il21r G T 7: 125,229,012 (GRCm39) probably benign Het
Lrrc7 A G 3: 157,867,063 (GRCm39) F893L possibly damaging Het
Map2 A G 1: 66,472,739 (GRCm39) I1715V probably damaging Het
Mlh3 A G 12: 85,287,628 (GRCm39) I1339T possibly damaging Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Noc3l A G 19: 38,806,371 (GRCm39) probably benign Het
Nup93 A G 8: 95,030,293 (GRCm39) D384G probably damaging Het
Or5m9b T A 2: 85,905,646 (GRCm39) C187* probably null Het
Or5p54 T C 7: 107,554,433 (GRCm39) I195T probably benign Het
Or8b40 C T 9: 38,027,547 (GRCm39) L152F probably benign Het
Pls1 A T 9: 95,668,972 (GRCm39) probably benign Het
Prkcb A T 7: 122,024,200 (GRCm39) H75L probably damaging Het
Rev1 A T 1: 38,113,449 (GRCm39) Y539* probably null Het
Rnf10 A T 5: 115,393,506 (GRCm39) probably benign Het
Rnpepl1 A G 1: 92,843,582 (GRCm39) Y234C probably damaging Het
Sdk2 T C 11: 113,741,717 (GRCm39) probably benign Het
Sec23b T A 2: 144,409,832 (GRCm39) M240K probably benign Het
Sema5a A T 15: 32,681,755 (GRCm39) N945Y probably damaging Het
Snapc4 C A 2: 26,257,228 (GRCm39) R799L probably benign Het
Spata31g1 A C 4: 42,972,203 (GRCm39) K512T probably damaging Het
Tctn3 T C 19: 40,599,860 (GRCm39) probably benign Het
Tex56 A T 13: 35,108,532 (GRCm39) I5L probably benign Het
Tfpt G A 7: 3,623,898 (GRCm39) Q50* probably null Het
Trim80 T C 11: 115,332,039 (GRCm39) V77A probably damaging Het
Trp73 T A 4: 154,148,841 (GRCm39) D256V possibly damaging Het
Utrn G T 10: 12,519,345 (GRCm39) N2202K probably benign Het
Vps13c T A 9: 67,858,926 (GRCm39) F2792Y probably benign Het
Other mutations in 1700113H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:1700113H08Rik APN 10 87,000,985 (GRCm39) missense probably damaging 1.00
IGL01764:1700113H08Rik APN 10 86,909,910 (GRCm39) start codon destroyed probably benign 0.02
IGL02173:1700113H08Rik APN 10 87,061,754 (GRCm39) missense possibly damaging 0.63
IGL02756:1700113H08Rik APN 10 87,000,970 (GRCm39) missense probably damaging 0.99
IGL03202:1700113H08Rik APN 10 86,909,911 (GRCm39) start codon destroyed probably null 0.35
IGL03393:1700113H08Rik APN 10 86,909,902 (GRCm39) utr 5 prime probably benign
R0255:1700113H08Rik UTSW 10 87,061,907 (GRCm39) missense probably damaging 1.00
R0744:1700113H08Rik UTSW 10 87,000,931 (GRCm39) missense probably damaging 1.00
R0833:1700113H08Rik UTSW 10 87,000,931 (GRCm39) missense probably damaging 1.00
R1163:1700113H08Rik UTSW 10 86,957,284 (GRCm39) missense probably damaging 0.99
R2128:1700113H08Rik UTSW 10 87,066,066 (GRCm39) missense possibly damaging 0.94
R2129:1700113H08Rik UTSW 10 87,066,066 (GRCm39) missense possibly damaging 0.94
R4108:1700113H08Rik UTSW 10 87,061,796 (GRCm39) missense probably damaging 1.00
R5541:1700113H08Rik UTSW 10 87,061,808 (GRCm39) missense probably benign 0.00
R6345:1700113H08Rik UTSW 10 87,061,913 (GRCm39) missense probably benign 0.43
R6372:1700113H08Rik UTSW 10 87,066,088 (GRCm39) missense possibly damaging 0.92
R6710:1700113H08Rik UTSW 10 87,061,923 (GRCm39) missense probably benign 0.00
R6971:1700113H08Rik UTSW 10 87,000,903 (GRCm39) missense possibly damaging 0.91
R7055:1700113H08Rik UTSW 10 87,062,083 (GRCm39) missense probably damaging 0.99
R7713:1700113H08Rik UTSW 10 87,066,173 (GRCm39) missense possibly damaging 0.80
R7808:1700113H08Rik UTSW 10 86,957,297 (GRCm39) missense probably benign 0.33
R7838:1700113H08Rik UTSW 10 87,042,061 (GRCm39) splice site probably null
R8293:1700113H08Rik UTSW 10 87,061,864 (GRCm39) missense possibly damaging 0.92
R9041:1700113H08Rik UTSW 10 87,062,054 (GRCm39) missense probably benign 0.03
R9351:1700113H08Rik UTSW 10 87,066,068 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AGCCCCATTCAGCATGGCTTCATC -3'
(R):5'- AGCTTACTGGCAGCTTGCATTTCC -3'

Sequencing Primer
(F):5'- CAGAGTTTCAATACAgtgtgtgtg -3'
(R):5'- TTCCAGAAATGGGCTGATCC -3'
Posted On 2013-05-09